VACTERL Association with Situs Inversus Totalis: A Unique Combination

Neonatal Netw. 2019 Mar 1;38(2):98-106. doi: 10.1891/0730-0832.38.2.98. Epub 2019 Mar 6.

Abstract

Background: VACTERL association is a sporadic, nonrandom series of congenital malformations diagnosed by the presence of three or more of the following: vertebral malformations, anal atresia, cardiac defects, tracheoesophageal fistula, renal malformations, and limb malformations. Situs inversus totalis (SIT) and esophageal malformations are rarely associated. This is the first reported case in North America of VACTERL association with SIT.

Implications for practice: Respiratory distress in the term infant requires full exploration of all possible causes because the etiology may be far more complex than routinely diagnosed respiratory distress syndrome. This particular case demonstrates physical exam findings and supportive imaging that would be observed in infants with VACTERL association and with SIT, highlighting considerations when, rarely, both occur simultaneously.

Keywords: anal atresia; cardiac defects; congenital malformations; esophageal atresia; limb malformations; renal malformations; situs inversus; tracheoesophageal fistula; vertebral malformations.

MeSH terms

  • Aftercare / methods
  • Anal Canal / abnormalities*
  • Anal Canal / physiopathology
  • Diagnosis, Differential
  • Esophagus / abnormalities*
  • Esophagus / physiopathology
  • Female
  • Heart Defects, Congenital* / complications
  • Heart Defects, Congenital* / diagnosis
  • Heart Defects, Congenital* / physiopathology
  • Heart Defects, Congenital* / therapy
  • Humans
  • Infant, Newborn
  • Kidney / abnormalities*
  • Kidney / physiopathology
  • Limb Deformities, Congenital* / complications
  • Limb Deformities, Congenital* / diagnosis
  • Limb Deformities, Congenital* / physiopathology
  • Limb Deformities, Congenital* / therapy
  • Neonatal Screening / methods
  • Patient Care Management / methods
  • Physical Examination / methods
  • Radiography, Abdominal / methods
  • Radiography, Thoracic / methods
  • Respiratory Distress Syndrome, Newborn / diagnosis*
  • Situs Inversus* / complications
  • Situs Inversus* / diagnosis
  • Situs Inversus* / physiopathology
  • Situs Inversus* / therapy
  • Spine / abnormalities*
  • Spine / physiopathology
  • Trachea / abnormalities*
  • Trachea / physiopathology
  • Vestibulocochlear Nerve Diseases / congenital
  • Vestibulocochlear Nerve Diseases / diagnosis

Supplementary concepts

  • VACTERL association